Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs727503030
rs727503030
ELN
0.925 0.040 7 74054770 splice donor variant G/A snv 6.0E-05 6.3E-05
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs369634007
rs369634007
0.882 0.080 2 112098688 missense variant A/G snv 1.6E-05 2.1E-05
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 1.000 1 2016 2016
dbSNP: rs1554317931
rs1554317931
0.851 0.080 7 42045460 frameshift variant G/- delins
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs1555932766
rs1555932766
0.882 0.080 X 41210540 stop gained C/T snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs749203329
rs749203329
0.882 0.080 19 6213787 missense variant C/T snv 2.0E-05 1.4E-05
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs869312687
rs869312687
0.925 0.080 1 155910695 missense variant T/G snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs1213930919
rs1213930919
0.882 0.120 2 178577785 stop gained G/A snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs1555380716
rs1555380716
0.882 0.120 15 34255385 frameshift variant -/C delins
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs1557194525
rs1557194525
TAZ
1.000 0.120 X 154420961 frameshift variant C/- del
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs1565706229
rs1565706229
0.851 0.120 11 86277110 missense variant T/C snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs387906819
rs387906819
0.882 0.120 18 22181517 missense variant G/A snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs797045141
rs797045141
0.882 0.160 15 63696341 splice acceptor variant T/G snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 1.000 1 2016 2016
dbSNP: rs1057518914
rs1057518914
0.790 0.160 X 20193547 missense variant G/C snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs121918470
rs121918470
0.790 0.160 12 112489105 missense variant A/C;G snv 4.0E-06
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs121918494
rs121918494
0.790 0.160 10 121517363 missense variant G/C snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs1554496813
rs1554496813
0.827 0.160 7 152177839 frameshift variant -/G delins
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs1554846212
rs1554846212
0.851 0.160 10 75030037 missense variant C/T snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs1559193213
rs1559193213
0.807 0.160 2 166036149 frameshift variant -/G delins
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs1569167586
rs1569167586
0.851 0.160 22 37973687 frameshift variant AGTAG/- delins
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs397507539
rs397507539
0.851 0.160 12 112489047 missense variant C/A;G;T snv 4.0E-06
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs397507540
rs397507540
0.851 0.160 12 112489048 missense variant C/A;T snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs1554110735
rs1554110735
0.776 0.200 6 10398693 frameshift variant TT/- delins
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs1554196416
rs1554196416
0.851 0.200 6 78958551 stop gained G/A snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs875989803
rs875989803
0.827 0.200 X 41343249 stop gained G/T snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs397507549
rs397507549
0.742 0.240 12 112489104 missense variant C/A;G snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 1.000 2 2005 2006